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### ANNOVAR | |||
This APP developed for the annotation of VCF files. | |||
**Please take care to check that the parameter `hg` is compatible with your reference genome reference builds version.** | |||
If the type and version of database currently used in the APP does not meet your needs, please contact the developer. | |||
### Getting Started | |||
We recommend using choppy system and Aliyun OSS service. The command will look like this: | |||
``` | |||
# Activate the choppy environment | |||
$ open-choppy-env | |||
# Install the APP | |||
$ choppy install YaqingLiu/annovar [-f] | |||
# List the parameters | |||
$ choppy samples YaqingLiu/annovar-latest [--no-default] | |||
# Submit you task with the `samples.csv file` and `project name` | |||
$ choppy batch YaqingLiu/annovar-latest samples.csv -p Project [-l project:Label] | |||
# Query the status of all tasks in the project | |||
$ choppy query -L project:Label | grep "status" | |||
``` |
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{ | |||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2019.10", | |||
"annovar_database": "oss://pgx-reference-data/annovar/", | |||
"hg": "hg38", | |||
"disk_size": "200", | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc" | |||
} |
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{ | |||
"{{ project_name }}.vcf": "{{ vcf }}", | |||
"{{ project_name }}.annovar_docker": "{{ annovar_docker }}", | |||
"{{ project_name }}.hg": "{{ hg }}", | |||
"{{ project_name }}.annovar_database": "{{ annovar_database }}", | |||
"{{ project_name }}.disk_size": "{{ disk_size }}", | |||
"{{ project_name }}.cluster_config": "{{ cluster_config }}" | |||
} |
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task annovar { | |||
File vcf | |||
String basename = basename(vcf,".vcf") | |||
String hg | |||
File annovar_database | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
nt=$(nproc) | |||
if [ ${hg} == "hg38" ]; then | |||
/installations/annovar/table_annovar.pl ${vcf}\ | |||
${annovar_database} -buildver ${hg} \ | |||
-out ${basename} -remove \ | |||
-protocol rmsk \ | |||
-operation r \ | |||
-nastring . -vcfinput -thread $nt | |||
fi | |||
if [ ${hg} == "hg19" ]; then | |||
/installations/annovar/table_annovar.pl ${vcf}\ | |||
${annovar_database} -buildver ${hg} \ | |||
-out ${basename} -remove \ | |||
-protocol refGene,cytoBand,genomicSuperDups,ljb26_all,snp138,cosmic78,intervar_20170202,popfreq_all_20150413,clinvar_20190305 \ | |||
-operation g,r,r,f,f,f,f,f,f \ | |||
-nastring . -vcfinput -thread $nt | |||
fi | |||
>>> | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File avinput = "${basename}.avinput" | |||
File rmsk_txt = "${basename}.${hg}_rmsk.txt" | |||
File rmsk_vcf = "${basename}.${hg}_rmsk.vcf" | |||
} | |||
} |
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import "./tasks/annovar.wdl" as annovar | |||
workflow {{ project_name }} { | |||
File vcf | |||
String hg | |||
File annovar_database | |||
String annovar_docker | |||
String disk_size | |||
String cluster_config | |||
call annovar.annovar as annovar { | |||
input: | |||
vcf=vcf, | |||
hg=hg, | |||
annovar_database=annovar_database, | |||
docker=annovar_docker, | |||
cluster_config=cluster_config, | |||
disk_size=disk_size | |||
} | |||
} |